Linked Data
ClinVar Variation Id:
386968
dbSNP Id:
rs142479943
ExAC:
14:77755152 T / G
gnomAD v2:
14-77755152-T-G
gnomAD v3:
14-77288809-T-G
gnomAD v4:
14-77288809-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77288809T>G , CM000676.2:g.77288809T>G | GRCh38 |
| NC_000014.8:g.77755152T>G , CM000676.1:g.77755152T>G | GRCh37 |
| NC_000014.7:g.76824905T>G | NCBI36 |
| NG_008897.1:g.37074A>C , LRG_844:g.37074A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.747A>C | ENSP00000451967.2:p.Pro249= | |
| ENST00000682247.1:c.1206A>C | ENSP00000507213.1:p.Pro402= | |
| ENST00000682382.1:c.778A>C | ||
| ENST00000682395.1:n.935A>C | ||
| ENST00000682459.1:n.870A>C | ||
| ENST00000682467.1:c.1206A>C | ENSP00000508062.1:p.Pro402= | |
| ENST00000682795.1:c.1206A>C | ENSP00000507574.1:p.Pro402= | |
| ENST00000682895.1:n.922A>C | ||
| ENST00000682955.1:n.494A>C | ||
| ENST00000683188.1:c.732A>C | ||
| ENST00000683328.1:c.199A>C | ENSP00000508096.1:n.199A>C | |
| ENST00000683380.1:n.870A>C | ||
| ENST00000683828.1:c.915A>C | ||
| ENST00000684259.1:n.1057A>C | ||
| ENST00000684549.1:n.757A>C | ||
| ENST00000261534.9:c.1206A>C MANE Select | ENSP00000261534.4:p.Pro402= | |
| ENST00000261534.8:c.1206A>C | ENSP00000261534.4:p.Pro402= | |
| ENST00000452340.7:n.1229A>C | ||
| ENST00000553880.5:n.77A>C | ||
| ENST00000554767.5:n.1992A>C | ||
| ENST00000556851.1:n.203A>C | ||
| ENST00000557675.5:n.296A>C | ||
| NM_013382.5:c.1206A>C , LRG_844t1:c.1206A>C | NP_037514.2:p.Pro402= | |
| XM_011536675.1:c.1206A>C | XP_011534977.1:p.Pro402= | |
| XM_011536676.1:c.873A>C | XP_011534978.1:p.Pro291= | |
| XM_011536677.1:c.747A>C | XP_011534979.1:p.Pro249= | |
| XM_011536678.1:c.1206A>C | XP_011534980.1:p.Pro402= | |
| XM_011536679.1:c.300A>C | XP_011534981.1:p.Pro100= | |
| XM_011536680.1:c.1206A>C | XP_011534982.1:p.Pro402= | |
| XR_943416.1:n.1409A>C | ||
| XM_011536675.2:c.1206A>C | XP_011534977.1:p.Pro402= | |
| XM_011536676.2:c.873A>C | XP_011534978.1:p.Pro291= | |
| XM_011536677.3:c.747A>C | XP_011534979.1:p.Pro249= | |
| XR_001750279.1:n.1406A>C | ||
| XR_001750282.1:n.1410A>C | ||
| XR_943416.3:n.1407A>C | ||
| NM_013382.6:c.1206A>C | NP_037514.2:p.Pro402= | |
| NM_013382.7:c.1206A>C MANE Select | NP_037514.2:p.Pro402= |